ASSOCIATION OF THE HEMOCHROMATOSIS H63D ALLELE WITH SEVERE OLIGOZOOSPERMIA
Plaseski T1,2, Dimitrovski C2, Kocevska B2, Efremov GD1, Plaseska-Karanfilska D1,*
*Corresponding Author: Dijana Plaseska-Karanfilska, MD, PhD, Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, Av. Krste Misirkov 2, POB 428, 1000 Skopje, Republic of Macedonia; Tel: +389 2 3235 410; Fax: +389 2 3115 434; E-mail: di-jana@manu.edu.mk
page: 57

RESULTS

The C282Y mutation was not found among the infertile/subfertile men or the fertile controls. Genotype frequencies of the H63D mutation among the different groups of infertile men and fertile controls are given in Table 1. The frequencies of H63D heterozygotes and homozygotes for infertile/subfertile men were 25.4 and 1.0%, respectively, and for fertile controls 23.4 and 0.7%, respec­tively. However, when analyzed in different groups of infertile men according to their sperm counts, a borderline significance was obtained for the frequencies of H63D heterozygotes and homozygotes in severe oligozoospermic subjects (41.2 and 2.9%, respectively), when compared to those of the fertile controls (p = 0.049).

Allele frequencies of the H63D mutation among the different groups of infertile patients and fertile controls are given in Table 2. The frequency did not differ between infertile/subfertile men (13.7%) and fertile controls (12.4%). A significantly higher frequency was detected only among men with severe oligozoospermia, i.e., sperm counts of £1.0 x 106/mL (23.5%), compared to the fertile controls (p = 0.019).



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